Bencze综合征
Bencze syndrome
ORPHA:1241疾病
定义 英文原文(暂无中文)
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.
别名
半面过度增生-斜视综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
临床表型 8
极常见 99–80%2
- 颞部头发连到眉梢 HP:0005325
- 面部不对称 HP:0000324
常见 79–30%5
- 弱视 HP:0000646
- 开牙合 HP:0010807
- 斜视 HP:0000486
- 内眦距过宽 HP:0000506
- 睑裂上斜 HP:0000582
偶见 29–5%1
- 黏膜下硬裂腭 HP:0000176
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
- 中文病名:Orphanet 中文包,冻结于 2020-06-01
- 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)